KDM6A

lysine demethylase 6A

Summary

This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

Known Variants792 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs184602124	X:44,732,143	A/C	—	benign
rs768056637	X:44,732,748	C/G	—	benign
rs953398580	X:44,732,788	C/G	—	uncertain significance
rs1359983262	X:44,732,806	C/T	—	uncertain significance
rs770931883	X:44,732,817	C/G	—	uncertain significance
rs2031055969	X:44,732,821	C/T	—	likely benign
rs2146440966	X:44,732,822	G/C	—	uncertain significance
rs2031060541	X:44,732,833	C/G	—	likely benign
rs2031064287	X:44,732,840	G/A	—	uncertain significance
rs1007509134	X:44,732,844	C/G	—	uncertain significance
rs772375300	X:44,732,845	C/T	—	likely benign
rs1018780128	X:44,732,846	G/A	—	conflicting classifications of pathogenicity
rs2031069174	X:44,732,851	C/A	—	uncertain significance
rs2031070570	X:44,732,854	T/C	—	likely benign
rs2519216374	X:44,732,860	G/C	—	uncertain significance
rs760601613	X:44,732,862	A/C	—	conflicting classifications of pathogenicity
rs2031074739	X:44,732,866	G/T	—	uncertain significance
rs2519216898	X:44,732,883	A/G	—	uncertain significance
rs6529	X:44,732,885	G/A	—	benign
rs749979159	X:44,732,898	G/C	—	uncertain significance
rs2146443655	X:44,732,910	C/A	—	uncertain significance
rs1295453686	X:44,732,914	C/T	—	likely benign
rs2146444057	X:44,732,927	G/C	—	uncertain significance
rs1448211324	X:44,732,930	G/C	—	uncertain significance
rs2031089050	X:44,732,934	G/A	—	uncertain significance
rs2146444183	X:44,732,936	G/A	—	uncertain significance
rs2031089646	X:44,732,937	A/G	—	pathogenic
rs1236803571	X:44,732,938	G/A	—	likely benign
rs2519218021	X:44,732,939	G/T	—	uncertain significance
rs766103037	X:44,732,944	C/T	—	benign
rs1190008554	X:44,732,945	G/A	—	likely benign
rs923984398	X:44,732,946	G/A	—	conflicting classifications of pathogenicity
rs1472145906	X:44,732,947	C/T	—	likely benign
rs886043476	X:44,732,948	G/T	stop gained	pathogenic
rs1352040501	X:44,732,949	G/C	—	uncertain significance
rs1158209233	X:44,732,951	C/T	—	likely benign
rs1406131408	X:44,732,953	G/A	—	likely benign
rs2519218765	X:44,732,957	A/G	—	uncertain significance
rs2519219178	X:44,732,967	C/T	—	likely benign
rs1315368720	X:44,732,975	C/T	—	likely benign
rs113197794	X:44,733,136	A/T	—	benign
rs2519223258	X:44,733,152	C/T	—	likely benign
rs550932304	X:44,733,153	T/C	—	likely benign
rs372752892	X:44,733,158	C/G	—	likely benign
rs2146447866	X:44,733,160	G/A	—	likely benign
rs2031150101	X:44,733,165	C/T	—	likely benign
rs1234030940	X:44,733,171	C/T	—	uncertain significance
rs1294014005	X:44,733,185	C/G	—	uncertain significance
rs2146448210	X:44,733,186	G/T	—	uncertain significance
rs1345115945	X:44,733,204	G/A	—	likely benign
rs1280926744	X:44,733,207	G/T	—	uncertain significance
rs2031156846	X:44,733,208	C/T	—	uncertain significance
rs377172165	X:44,733,209	C/T	—	benign
rs751146386	X:44,733,211	G/C	—	conflicting classifications of pathogenicity
rs2031158793	X:44,733,219	G/A	—	uncertain significance
rs2146448681	X:44,733,229	G/T	—	uncertain significance
rs1042038341	X:44,733,230	C/G	—	likely benign
rs764394692	X:44,733,232	A/C	—	uncertain significance
rs2146448773	X:44,733,234	G/A	—	pathogenic
rs2031164445	X:44,733,247	G/T	—	likely benign
rs779526664	X:44,733,249	G/C	—	benign
rs758432529	X:44,733,252	G/T	—	likely benign
rs562879738	X:44,733,255	G/A	—	benign
rs200269409	X:44,733,259	G/C	—	likely benign
rs202137810	X:44,733,263	A/C	—	benign
rs148841559	X:44,733,329	A/G	—	benign
rs189569625	X:44,733,438	T/G	—	likely benign
rs144974719	X:44,770,846	C/T	intron variant	—
rs5952279	X:44,817,750	G/C	—	—
rs17244990	X:44,820,215	C/A	—	likely benign
rs7878293	X:44,820,303	A/G	—	benign
rs748561637	X:44,820,510	T/C	—	benign
rs750880655	X:44,820,521	A/G	—	likely benign
rs369346366	X:44,820,525	C/A	—	benign
rs780238270	X:44,820,535	C/T	—	likely benign
rs1569483946	X:44,820,538	T/C	—	uncertain significance
rs1373790479	X:44,820,553	A/G	—	uncertain significance
rs2147168881	X:44,820,564	T/G	—	likely benign
rs2147169032	X:44,820,572	A/G	—	uncertain significance
rs781622337	X:44,820,574	G/T	—	uncertain significance
rs747890387	X:44,820,580	T/A	—	uncertain significance
rs200940558	X:44,820,597	A/G	—	conflicting classifications of pathogenicity
rs2147169831	X:44,820,601	G/A	—	uncertain significance
rs749202669	X:44,820,611	A/G	—	uncertain significance
rs910574391	X:44,820,621	G/A	—	likely benign
rs1201454112	X:44,820,622	G/A	—	uncertain significance
rs1569484132	X:44,820,625	G/A	—	uncertain significance
rs1203524796	X:44,820,633	A/G	—	likely benign
rs2147170755	X:44,820,638	G/A	—	likely pathogenic
rs372038661	X:44,820,667	A/T	—	benign
rs141721396	X:44,831,815	G/A	intron variant	—
rs112536942	X:44,833,826	T/C	—	benign
rs6611055	X:44,833,841	C/A	—	benign
rs371294715	X:44,833,891	C/T	—	likely benign
rs763484207	X:44,833,898	A/G	—	likely benign
rs767039378	X:44,833,917	C/T	—	uncertain significance
rs2039532932	X:44,833,919	G/A	—	uncertain significance
rs2147263638	X:44,833,924	C/A	—	pathogenic
rs2520298620	X:44,833,925	C/T	—	pathogenic
rs2520298732	X:44,833,933	C/G	—	pathogenic

Showing 100 of 792 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.